van Os Nienke J H, Haaxma Charlotte A, van der Flier Michiel, Merkus Peter J F M, van Deuren Marcel, de Groot Imelda J M, Loeffen Jan, van de Warrenburg Bart P C, Willemsen Michèl A A P
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20.
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.
共济失调毛细血管扩张症是一种罕见的神经退行性多系统疾病，其特征为小脑共济失调、眼皮肤毛细血管扩张、免疫缺陷、进行性呼吸衰竭以及患恶性肿瘤风险增加。它需要根据个体患者的需求提供专门护理。除了典型的共济失调毛细血管扩张症表型外，还存在一种变异表型，其具有部分重叠但也有一些独特的疾病特征。本指南总结了经典型和变异型共济失调毛细血管扩张症患者病程中在神经病学、免疫学和传染病学、肺病学、麻醉和围手术期风险、肿瘤学、内分泌学和营养学等领域经常遇到的医学问题。此外，它还为所有这些不同临床主题的随访和治疗提供了一份基于证据和专家建议的实用指南。
